LOC130057355 (ATAC-STARR-seq lymphoblastoid active region 9620) - Rat Genome Database

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Gene: LOC130057355 (ATAC-STARR-seq lymphoblastoid active region 9620) Homo sapiens
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Symbol: LOC130057355
Name: ATAC-STARR-seq lymphoblastoid active region 9620
RGD ID: 329817600
Description: This genomic sequence represents an accessible chromatin region that was validated as an enhancer based on its ability to activate an origin of replication minimal core promoter by the ATAC-STARR-seq (assay for transposase-accessible chromatin with self-transcribing active regulatory region sequencing) massively parallel reporter assay (MPRA) in GM12878 lymphoblastoid cells. [provided by RefSeq, May 2023]
Type: biological-region
RefSeq Status: REVIEWED
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381567,083,690 - 67,083,769 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371567,376,028 - 67,376,107 (+)NCBIGRCh37GRCh37hg19GRCh37
T2T-CHM13v2.01564,905,586 - 64,905,665 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
LOC130057355Humanthoracic aortic aneurysm  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissectionsClinVarPMID:28492532

PMID:35858748  



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1 to 2 of 2 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
NC_000015.10:g.(?_66703239)_(67190556_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000813979] Chr15:66703239..67190556 [GRCh38]
Chr15:66995577..67482894 [GRCh37]
Chr15:15q22.31-22.33		 pathogenic
1 to 2 of 2 rows





RefSeq Transcripts NG_191776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles



Database
Acc Id
Source(s)
COSMIC LOC130057355 COSMIC
GTEx LOC130057355 GTEx
Human Proteome Map LOC130057355 Human Proteome Map
NCBI Gene LOC130057355 ENTREZGENE